BAMBI

BMP and activin membrane bound inhibitor

Basic information

Region (hg38): 10:28677510-28682932

Links

ENSG00000095739 ∙ NCBI:25805 ∙ OMIM:604444 ∙ HGNC:30251 ∙ Uniprot:Q13145 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BAMBI gene.

• not_specified (33 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BAMBI gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012342.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			33	1		34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	33	2	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BAMBI	protein_coding	protein_coding	ENST00000375533	3	5598

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000214	0.753	125714	0	34	125748	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.104	150	146	1.02	0.00000803	1707
Missense in Polyphen		54	62.992	0.85725		664
Synonymous	-0.541	63	57.8	1.09	0.00000358	495
Loss of Function	1.02	7	10.6	0.662	6.47e-7	114

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000271	0.000271
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.000163	0.000163
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Negatively regulates TGF-beta signaling.
• Pathway: TGF-beta signaling pathway - Homo sapiens (human);Wnt signaling pathway - Homo sapiens (human);TGF-Ncore;TGF-beta Receptor Signaling;Signal Transduction;BMP receptor signaling;Signaling by TGF-beta Receptor Complex;BMP2 signaling TGF-beta MV;Signaling by TGF-beta family members;Downregulation of TGF-beta receptor signaling;TGF-beta receptor signaling activates SMADs;TGF-beta receptor signaling (Consensus)

Recessive Scores

• pRec: 0.281

Intolerance Scores

• loftool: 0.436
• rvis_EVS: -0.12
• rvis_percentile_EVS: 45.13

Haploinsufficiency Scores

• pHI: 0.119
• hipred: N
• hipred_score: 0.350
• ghis: 0.482

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.982

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Bambi
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); normal phenotype

Zebrafish Information Network

• Gene name: bambia
• Affected structure: thrombocyte
• Phenotype tag: abnormal
• Phenotype quality: distributed

Gene ontology

• Biological process: positive regulation of cell population proliferation;regulation of cell shape;positive regulation of epithelial to mesenchymal transition;cell migration;negative regulation of transforming growth factor beta receptor signaling pathway;positive regulation of protein binding;positive regulation of transcription, DNA-templated;positive regulation of canonical Wnt signaling pathway
• Cellular component: cytoplasm;plasma membrane;integral component of membrane
• Molecular function: frizzled binding;type II transforming growth factor beta receptor binding